The Experts below are selected from a list of 161637 Experts worldwide ranked by ideXlab platform
Jing Wang - One of the best experts on this subject based on the ideXlab platform.
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clinical application of massively parallel sequencing in the Molecular Diagnosis of glycogen storage diseases of genetically heterogeneous origin
Genetics in Medicine, 2013Co-Authors: Jing Wang, Leejun C Wong, Yinhsiu Chien, William J Craigen, Victor Wei ZhangAbstract:Clinical application of massively parallel sequencing in the Molecular Diagnosis of glycogen storage diseases of genetically heterogeneous origin
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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial DNA disorders
Genetics in medicine : official journal of the American College of Medical Genetics, 2013Co-Authors: Hong Cui, Guoli Wang, David Chen, Cavatina K. Truong, Gregory M. Enns, Brett H. Graham, Margherita Milone, Megan Landsverk, Jing WangAbstract:Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial DNA disorders
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comprehensive next generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial dna disorders
Genetics in Medicine, 2013Co-Authors: Fangyuan Li, Guoli Wang, Jing Wang, David Chen, Cavatina K. Truong, Gregory M. Enns, Brett H. Graham, Margherita Milone, Megan Landsverk, Wei ZhangAbstract:PURPOSE: The application of massively parallel sequencing technology to the analysis of the mitochondrial genome has demonstrated great improvement in the Molecular Diagnosis of mitochondrial DNA-related disorders. The objective of this study was to investigate the performance characteristics and to gain new insights into the analysis of the mitochondrial genome. METHODS: The entire mitochondrial genome was analyzed as a single amplicon using a long-range PCR-based enrichment approach coupled with massively parallel sequencing. The interference of the nuclear mitochondrial DNA homologs was distinguished from the actual mitochondrial DNA sequences by comparison with the results obtained from conventional PCR-based Sanger sequencing using multiple pairs of primers. RESULTS: Our results demonstrated the uniform coverage of the entire mitochondrial genome. Massively parallel sequencing of the single amplicon revealed the presence of single-nucleotide polymorphisms and nuclear homologs of mtDNA sequences that cause the erroneous and inaccurate variant calls when PCR/Sanger sequencing approach was used. This single amplicon massively parallel sequencing strategy provides an accurate quantification of mutation heteroplasmy as well as the detection and mapping of mitochondrial DNA deletions. CONCLUSION: The ability to quantitatively and qualitatively evaluate every single base of the entire mitochondrial genome is indispensible to the accurate Molecular Diagnosis and genetic counseling of mitochondrial DNA-related disorders. This new approach may be considered as first-line testing for comprehensive analysis of the mitochondrial genome.Genet Med 2013:15(5):388-394.
Bart P. Leroy - One of the best experts on this subject based on the ideXlab platform.
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massively parallel sequencing for early Molecular Diagnosis in leber congenital amaurosis
Genetics in Medicine, 2012Co-Authors: Frauke Coppieters, Bart P. Leroy, Bram De Wilde, Steve Lefever, Ellen De Meester, Nina De Rocker, Caroline Van Cauwenbergh, Filip Pattyn, Françoise MeireAbstract:Leber congenital amaurosis (LCA) is a rare congenital retinal dystrophy associated with 16 genes. Recent breakthroughs in LCA gene therapy offer the first prospect of treating inherited blindness, which requires an unequivocal and early Molecular Diagnosis. While present genetic tests do not address this due to a tremendous genetic heterogeneity, massively parallel sequencing (MPS) strategies might bring a solution. Here, we developed a comprehensive Molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes. We designed a unique and flexible workflow for targeted resequencing of all 236 exons from 16 LCA genes based on quantitative PCR (qPCR) amplicon ligation, shearing, and parallel sequencing of multiple patients on a single lane of a short-read sequencer. Twenty-two prescreened LCA patients were included, five of whom had a known Molecular cause. Validation of 107 variations was performed as proof of concept. In addition, the causal genetic defect and a single heterozygous mutation were identified in 3 and 5, respectively, of 17 patients without previously identified mutations. We propose a novel targeted MPS-based approach that is suitable for accurate, fast, and cost-effective early Molecular testing in LCA, and easily applicable in other genetic disorders. Genet Med 2012:14(6):576–585
Wei Zhang - One of the best experts on this subject based on the ideXlab platform.
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comprehensive next generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial dna disorders
Genetics in Medicine, 2013Co-Authors: Fangyuan Li, Guoli Wang, Jing Wang, David Chen, Cavatina K. Truong, Gregory M. Enns, Brett H. Graham, Margherita Milone, Megan Landsverk, Wei ZhangAbstract:PURPOSE: The application of massively parallel sequencing technology to the analysis of the mitochondrial genome has demonstrated great improvement in the Molecular Diagnosis of mitochondrial DNA-related disorders. The objective of this study was to investigate the performance characteristics and to gain new insights into the analysis of the mitochondrial genome. METHODS: The entire mitochondrial genome was analyzed as a single amplicon using a long-range PCR-based enrichment approach coupled with massively parallel sequencing. The interference of the nuclear mitochondrial DNA homologs was distinguished from the actual mitochondrial DNA sequences by comparison with the results obtained from conventional PCR-based Sanger sequencing using multiple pairs of primers. RESULTS: Our results demonstrated the uniform coverage of the entire mitochondrial genome. Massively parallel sequencing of the single amplicon revealed the presence of single-nucleotide polymorphisms and nuclear homologs of mtDNA sequences that cause the erroneous and inaccurate variant calls when PCR/Sanger sequencing approach was used. This single amplicon massively parallel sequencing strategy provides an accurate quantification of mutation heteroplasmy as well as the detection and mapping of mitochondrial DNA deletions. CONCLUSION: The ability to quantitatively and qualitatively evaluate every single base of the entire mitochondrial genome is indispensible to the accurate Molecular Diagnosis and genetic counseling of mitochondrial DNA-related disorders. This new approach may be considered as first-line testing for comprehensive analysis of the mitochondrial genome.Genet Med 2013:15(5):388-394.
Guoli Wang - One of the best experts on this subject based on the ideXlab platform.
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improved Molecular Diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
Genetics in Medicine, 2015Co-Authors: Yanming Feng, Victor Wei Zhang, Guoli Wang, David K. Chen, Leejun C WongAbstract:Improved Molecular Diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial DNA disorders
Genetics in medicine : official journal of the American College of Medical Genetics, 2013Co-Authors: Hong Cui, Guoli Wang, David Chen, Cavatina K. Truong, Gregory M. Enns, Brett H. Graham, Margherita Milone, Megan Landsverk, Jing WangAbstract:Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial DNA disorders
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comprehensive next generation sequence analyses of the entire mitochondrial genome reveal new insights into the Molecular Diagnosis of mitochondrial dna disorders
Genetics in Medicine, 2013Co-Authors: Fangyuan Li, Guoli Wang, Jing Wang, David Chen, Cavatina K. Truong, Gregory M. Enns, Brett H. Graham, Margherita Milone, Megan Landsverk, Wei ZhangAbstract:PURPOSE: The application of massively parallel sequencing technology to the analysis of the mitochondrial genome has demonstrated great improvement in the Molecular Diagnosis of mitochondrial DNA-related disorders. The objective of this study was to investigate the performance characteristics and to gain new insights into the analysis of the mitochondrial genome. METHODS: The entire mitochondrial genome was analyzed as a single amplicon using a long-range PCR-based enrichment approach coupled with massively parallel sequencing. The interference of the nuclear mitochondrial DNA homologs was distinguished from the actual mitochondrial DNA sequences by comparison with the results obtained from conventional PCR-based Sanger sequencing using multiple pairs of primers. RESULTS: Our results demonstrated the uniform coverage of the entire mitochondrial genome. Massively parallel sequencing of the single amplicon revealed the presence of single-nucleotide polymorphisms and nuclear homologs of mtDNA sequences that cause the erroneous and inaccurate variant calls when PCR/Sanger sequencing approach was used. This single amplicon massively parallel sequencing strategy provides an accurate quantification of mutation heteroplasmy as well as the detection and mapping of mitochondrial DNA deletions. CONCLUSION: The ability to quantitatively and qualitatively evaluate every single base of the entire mitochondrial genome is indispensible to the accurate Molecular Diagnosis and genetic counseling of mitochondrial DNA-related disorders. This new approach may be considered as first-line testing for comprehensive analysis of the mitochondrial genome.Genet Med 2013:15(5):388-394.
Kathryn N North - One of the best experts on this subject based on the ideXlab platform.
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Brief Communications Single section Western blot Improving the Molecular Diagnosis of the muscular dystrophies
2014Co-Authors: Ra T. Cooper, Phd Harriet, Kathryn N NorthAbstract:Abstract—Single section Western blot (SSWB) is an improved methodology for Molecular Diagnosis of the muscular dystrophies, requiring only a single 8-m muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for Diagnosis of dystrophinopathies, to identify haploinsuf-ficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohisto-chemical abnormalities in limb-girdle muscular dystrophy type 2B. NEUROLOGY 2003;61:93–97 The clinical and pathologic phenotype of the limb girdle muscular dystrophies (LGMD) is very similar. Therefore, Diagnosis of specific subtypes relies pre-dominantly on immunohistochemistry, and quantita-tive analysis of proteins by Western blotting is often essential to distinguish between primary and second-ary immunohistochemical abnormalities. However, current immunoblot protocols require the solubiliza-tion of a significant portion of a muscle biopsy speci-men (20 to 100 mg).1-3 We have developed an improved methodology for Western blot analysis, re-quiring only a single 8-m biopsy cryosection for the simultaneous analysis of multiple disease candidates for a range of human muscular dystrophies and my-opathies. Such a small commitment of patient mus-cle tissue significantly increases the routine diagnostic potential of Western blot analysis for the Molecular Diagnosis of muscle disorders. Materials and methods. Antibodies. Antibodies to the follow-ing proteins were used: dystrophin (NCL-DYS1), dysferlin (NCL
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single section western blot improving the Molecular Diagnosis of the muscular dystrophies
Neurology, 2003Co-Authors: Sandra T Cooper, Kathryn N NorthAbstract:Single section Western blot (SSWB) is an improved methodology for Molecular Diagnosis of the muscular dystrophies, requiring only a single 8-μm muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates. The authors demonstrate that SSWB can be used for Diagnosis of dystrophinopathies, to identify haploinsufficiency in autosomal dominant laminopathy, and as a tool to distinguish between primary and secondary immunohistochemical abnormalities in limb-girdle muscular dystrophy type 2B.